Syndactyly type 3

Print

Disease Overview

Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused by mutations in the GJA1 gene, which has also been implicated in a condition called oculodentodigital dysplasia. SD3 is the characteristic digital abnormality in this condition. SD3 is inherited in an autosomal dominant manner.[6016]


Synonyms

  • SDTY3
  • Syndactyly of the ring and little finger
  • Syndactyly of fingers four and five
  • Ring and little finger syndactyly

For more information, visit GARD.

National Organization for Rare Disorders